Canonical Allele Identifier: CA492962471

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142533C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092532C>T , CM000678.2:g.2092532C>T	GRCh38
NC_000016.9:g.2142533C>T , CM000678.1:g.2142533C>T	GRCh37
NC_000016.8:g.2082534C>T	NCBI36
NG_008617.1:g.50689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11217G>A (PKD1) MANE Select	ENSP00000262304.4:p.Gln3739=
ENST00000262304.8:c.11217G>A (PKD1)	ENSP00000262304.4:p.Gln3739=
ENST00000423118.5:c.11214G>A (PKD1)	ENSP00000399501.1:p.Gln3738=
ENST00000485120.1:n.66G>A (PKD1)
ENST00000487932.5:c.5779G>A (PKD1)	ENSP00000457132.1:n.5779G>A
ENST00000562425.1:c.330G>A (PKD1)
ENST00000567355.1:n.380G>A (PKD1)
NM_000296.3:c.11214G>A (PKD1)	NP_000287.3:p.Gln3738=
NM_001009944.2:c.11217G>A (PKD1)	NP_001009944.2:p.Gln3739=
XM_005255370.2:c.8172G>A (PKD1)	XP_005255427.1:p.Gln2724=
XM_011522525.1:c.11295G>A (PKD1)	XP_011520827.1:p.Gln3765=
XM_011522526.1:c.11292G>A (PKD1)	XP_011520828.1:p.Gln3764=
XM_011522527.1:c.11277G>A (PKD1)	XP_011520829.1:p.Gln3759=
XM_011522528.1:c.11271G>A (PKD1)	XP_011520830.1:p.Gln3757=
XM_011522529.1:c.11268G>A (PKD1)	XP_011520831.1:p.Gln3756=
XM_011522530.1:c.11241G>A (PKD1)	XP_011520832.1:p.Gln3747=
XM_011522531.1:c.11223G>A (PKD1)	XP_011520833.1:p.Gln3741=
XM_011522532.1:c.11169G>A (PKD1)	XP_011520834.1:p.Gln3723=
XM_011522533.1:c.11088G>A (PKD1)	XP_011520835.1:p.Gln3696=
XM_011522534.1:c.11031G>A (PKD1)	XP_011520836.1:p.Gln3677=
XM_011522535.1:c.9117G>A (PKD1)	XP_011520837.1:p.Gln3039=
XM_011522537.1:c.8295G>A (PKD1)	XP_011520839.1:p.Gln2765=
XR_932867.1:n.11310G>A (PKD1)
XR_932868.1:n.11110-344G>A (PKD1)
XR_932869.1:n.11110-344G>A (PKD1)
XR_932870.1:n.11170G>A (PKD1)
XR_933000.1:n.90-357C>T (PKD1-AS1)
XR_933001.1:n.180-357C>T (PKD1-AS1)
XR_933002.1:n.89-357C>T (PKD1-AS1)
XR_933003.1:n.89-357C>T (PKD1-AS1)
NR_135175.1:n.180-357C>T (PKD1-AS1)
XM_005255370.3:c.8172G>A (PKD1)	XP_005255427.1:p.Gln2724=
XM_011522528.3:c.11271G>A (PKD1)	XP_011520830.1:p.Gln3757=
XM_011522529.2:c.11268G>A (PKD1)	XP_011520831.1:p.Gln3756=
XM_011522537.2:c.8295G>A (PKD1)	XP_011520839.1:p.Gln2765=
XM_024450298.1:c.11337G>A (PKD1)	XP_024306066.1:p.Gln3779=
XM_024450299.1:c.11265G>A (PKD1)	XP_024306067.1:p.Gln3755=
XM_024450300.1:c.11127G>A (PKD1)	XP_024306068.1:p.Gln3709=
XM_024450301.1:c.9213G>A (PKD1)	XP_024306069.1:p.Gln3071=
NM_000296.4:c.11214G>A (PKD1)	NP_000287.4:p.Gln3738=
NM_001009944.3:c.11217G>A (PKD1) MANE Select	NP_001009944.3:p.Gln3739=